Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial: initial diagnosis, before molecular testing
Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
- Unknown
- Familial
- Familial, autosomal dominant
- Familial, autosomal recessive
- Familial, X-linked
- Familial, X-linked dominant
- Familial, X-linked dominant, male sparing
- Familial, X-linked recessive
- Paternal, Y-linked
- Maternal, mitochondrial
- Isolated (sporadic)
- Di-genic
- Complex
- - = Not applicable
Age/Examination: age at which the individual was examined.
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
Age/Diagnosis: age diagnosis was confirmed
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
Age/Onset: Age first symptoms disease appeared in individual:
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
Phenotype/Onset: individual's phenotype at Age/Onset described using HPO
Protein: result from protein staining

 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
| 0000060598 |
Fructose intolerance (OMIM:229600) |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Daniel Trujillano |
00081029 |
| 0000244674 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326213 |
| 0000244675 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326214 |
| 0000244676 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326215 |
| 0000244677 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326216 |
| 0000244678 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326217 |
| 0000244679 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326218 |
| 0000244680 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326219 |
| 0000244681 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326220 |
| 0000244682 |
familial history of HFI, brother died after sucrose infusion |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326221 |
| 0000244683 |
aversion for sweet, vomiting after milk with sucrose jaundice, liver failure |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326222 |
| 0000244684 |
vomiting after milk with fructose hepatomegaly, elevated liver transaminases |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326223 |
| 0000244685 |
vomiting after orange juice aversion for sucrose milk, hepatomegaly |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326224 |
| 0000244686 |
aversion for sweet, hepatomegaly, diarrhea treated with oral sucrose formula: hypoglycaemia, elevated liver transaminases |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326225 |
| 0000244687 |
aversion for sweet, hepatomegaly, fatty liver |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326226 |
| 0000244688 |
aversion for sweet, hypoglycemia after oral sucrose formula |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326227 |
| 0000244689 |
vomiting after sucrose food, hepatomegaly, elevated liver transaminases |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326228 |
| 0000244690 |
abdominal pain, indigestion, lassitude, intolerant sweet foods/fruits |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326229 |
| 0000244691 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326230 |
| 0000244692 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326231 |
| 0000244693 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326232 |
| 0000244694 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326233 |
| 0000244695 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326234 |
| 0000244696 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326235 |
| 0000244697 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326236 |
| 0000244698 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326237 |
| 0000244699 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326238 |
| 0000244700 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326239 |
| 0000244701 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326240 |
| 0000244702 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326241 |
| 0000244703 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326242 |
| 0000244704 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326243 |
| 0000244705 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326244 |
| 0000244706 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326245 |
| 0000244707 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326246 |
| 0000244708 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326247 |
| 0000244709 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326248 |
| 0000244710 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326249 |
| 0000244711 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326250 |
| 0000244712 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326251 |
| 0000244713 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326252 |
| 0000244714 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326253 |
| 0000244715 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326254 |
| 0000244716 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326255 |
| 0000244717 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326256 |
| 0000244718 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326257 |
| 0000244719 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326258 |
| 0000244720 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326259 |
| 0000244721 |
weaning difficulties, hypoglycaemic symptoms, dietary intolerance, lack of dental caries |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326260 |
| 0000244722 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326261 |
| 0000244723 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326262 |
| 0000244724 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326263 |
| 0000244725 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326264 |
| 0000244726 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326265 |
| 0000244727 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326266 |
| 0000244728 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326267 |
| 0000244729 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326268 |
| 0000244730 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326269 |
| 0000244731 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326270 |
| 0000244732 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326271 |
| 0000244733 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326272 |
| 0000244734 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326273 |
| 0000244735 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326274 |
| 0000244736 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326275 |
| 0000244737 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326276 |
| 0000244738 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326277 |
| 0000244739 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326278 |
| 0000244740 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326279 |
| 0000244741 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326280 |
| 0000244742 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326281 |
| 0000244743 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326282 |
| 0000244744 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326283 |
| 0000244745 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326284 |
| 0000244746 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326285 |
| 0000244747 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326286 |
| 0000244748 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326287 |
| 0000244749 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326288 |
| 0000244750 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326289 |
| 0000244751 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326290 |
| 0000244752 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326291 |
| 0000244753 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326292 |
| 0000244754 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326293 |
| 0000244755 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326294 |
| 0000244756 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326295 |
| 0000244757 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326296 |
| 0000244758 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326297 |
| 0000244759 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326298 |
| 0000244760 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326299 |
| 0000244761 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326300 |
| 0000244762 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326301 |
| 0000244763 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326302 |
| 0000244764 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326303 |
| 0000244765 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326304 |
| 0000244766 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326305 |
| 0000244767 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326306 |
| 0000244768 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326307 |
| 0000244769 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326308 |
| 0000244770 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326309 |
| 0000244771 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326310 |
| 0000244772 |
- |
fructose intolerance |
HFI |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00326311 |